المؤلفون: Monisha Sebastin, Jacqueline A. Odgis, Sabrina A. Suckiel, Katherine E. Bonini, Miranda Di Biase, Kaitlyn Brown, Priya Marathe, Nicole R. Kelly, Michelle A. Ramos, Jessica E. Rodriguez, Karla López Aguiñiga, Jessenia Lopez, Estefany Maria, Michelle A. Rodriguez, Nicole M. Yelton, Charlotte Cunningham-Rundles, Katie Gallagher, Thomas V. McDonald, Patricia E. McGoldrick, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, Noura S. Abul-Husn, Laurie J. Bauman, George A. Diaz, Bart S. Ferket, John M. Greally, Vaidehi Jobanputra, Bruce D. Gelb, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein

المصدر: Pilot and Feasibility Studies, Vol 9, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Whole genome sequencing, Genomic sequencing, Telehealth, Telegenetics, Genetic counseling, Clinical utility, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2055-5784

URL الوصول: https://doaj.org/article/7f48af20b3204a4caf929dd7fb55d159

المؤلفون: Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny

المصدر: Trials, Vol 22, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/334447b3e3c141bca2619d554c1ef946

المؤلفون: Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny

المصدر: Trials, Vol 22, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Whole-genome sequencing, Genomic sequencing, Return of results, Clinical utility, Healthcare utilization, Pediatric genetics, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/819f1a1336f847c3a8fb64afc91c6e0a

المؤلفون: Lisa H. Shulman, Molly H. O'Neil, Robert W. Marion, Hayden A. M. Hatch, Julie Secombe

المصدر: Am J Med Genet A

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Autism Spectrum Disorder, Short stature, Article, Young Adult, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Child, Genetics (clinical), Histone Demethylases, business.industry, Infant, Genetic Diseases, X-Linked, medicine.disease, Natural history, Caregivers, Disease Presentation, Autism spectrum disorder, Child, Preschool, Mutation, Cohort, Mental Retardation, X-Linked, Etiology, Autism, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99af499531dcfb2b0acd75dd44fad2f2
https://doi.org/10.1002/ajmg.a.62381

المؤلفون: Lisa H, Shulman, Jennifer, Yoffe

المصدر: The Journal of pediatrics. 239

مصطلحات موضوعية: Developmental Disabilities, Humans, Mass Screening, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fc0321bd00b28f3a9d054be9e3edd403
https://pubmed.ncbi.nlm.nih.gov/34794645

المؤلفون: Bruce D. Gelb, Aaron Baum, Nehama Teitelman, Nicole R. Kelly, Christina Blackburn, Charlotte Cunningham-Rundles, Jessica E. Rodriguez, Carol R. Horowitz, Katie M. Gallagher, Michael L. Rinke, Toby Bloom, Kaitlyn Brown, Karla Lopez Aguiniga, Monisha Sebastin, Elissa G. Yozawitz, Laurie J. Bauman, Thomas V. McDonald, Steven M. Wolf, Arye Rubinstein, Bart S. Ferket, Sabrina A. Suckiel, Vaidehi Jobanputra, Nicole M. Yelton, Lena Fielding, Michelle A. Ramos, Christian Stolte, Patricia Kovatch, Randi E. Zinberg, Gabrielle Bertier, Melissa P. Wasserstein, Avinash Abhyankar, Noura S. Abul-Husn, Patricia E. McGoldrick, Lisa H. Shulman, Katherine E. Donohue, Mimsie Robinson, Rosamond Rhodes, Jules C. Beal, Estefany Maria, Siobhan M. Dolan, Jacqueline A. Odgis, Dana Watnick, George A. Diaz, John M. Greally, Jessenia Lopez, Eimear E. Kenny

المصدر: Trials
Trials, Vol 22, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Parents, medicine.medical_specialty, Medicine (miscellaneous), Genomics, Pilot Projects, Receptor Tyrosine Kinase-like Orphan Receptors, law.invention, Young Adult, Randomized controlled trial, law, medicine, Humans, Pharmacology (medical), Medical physics, Genetic Testing, Clinical care, Child, Randomized Controlled Trials as Topic, Protocol (science), lcsh:R5-920, business.industry, Correction, New York City, lcsh:Medicine (General), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d34bc3e5e8b8d868ca52e4fecf663977
http://europepmc.org/articles/PMC7885500

المؤلفون: Merryl A. Schechtman, Maria Valicenti-McDermott, Katharine R. Lawson, Rosa Seijo, Kathryn Hottinger, Shlomo Shinnar, Lisa H. Shulman

المصدر: Journal of Child Neurology. 34:387-393

مصطلحات موضوعية: Male, Sleep Wake Disorders, Adolescent, Autism Spectrum Disorder, Developmental Disabilities, Population, Irritability, Bedtime, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, medicine, Humans, 0501 psychology and cognitive sciences, Child, education, education.field_of_study, 05 social sciences, medicine.disease, Sleep in non-human animals, Cross-Sectional Studies, Autism spectrum disorder, Child, Preschool, Pediatrics, Perinatology and Child Health, Structured interview, Autism, Anxiety, Female, Neurology (clinical), medicine.symptom, Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b4250a58f75d6751deb8fee20442d5
https://doi.org/10.1177/0883073819836541

المؤلفون: Christina Blackburn, Lena Fielding, Karla Lopez Aguiniga, Jessenia Lopez, Jessica E. Rodriguez, Katie Gallagher, Nicole M. Yelton, Estefany Maria, Carol R. Horowitz, Melissa P. Wasserstein, Toby Bloom, Mimsie Robinson, Avinash Abhyankar, Rosamond Rhodes, Jacqueline A. Odgis, Dana Watnick, Bart S. Ferket, Arye Rubinstein, Elissa G. Yozawitz, Patricia Kovatch, George A. Diaz, John M. Greally, Gabrielle Bertier, Christian Stolte, Randi E. Zinberg, Noura S. Abul-Husn, Lisa H. Shulman, Monisha Sebastin, Aaron Baum, Nicole Kelly, Laurie J. Bauman, Thomas V. McDonald, Michelle A. Ramos, Jules C. Beal, Michael L. Rinke, Steven M. Wolf, Patricia E. McGoldrick, Kaitlyn Brown, Nehama Teitelman, Charlotte Cunningham-Rundles, Bruce D. Gelb, Eimear E. Kenny, Siobhan M. Dolan, Vaidehi Jobanputra, Sabrina A. Suckiel, Katherine E. Donohue

المصدر: Trials, Vol 22, Iss 1, Pp 1-14 (2021)
Trials

مصطلحات موضوعية: Healthcare utilization, medicine.medical_specialty, Best practice, MEDLINE, Medicine (miscellaneous), Genomics, Disease, Return of results, law.invention, 03 medical and health sciences, Study Protocol, Genomic sequencing, Randomized controlled trial, law, medicine, Pharmacology (medical), Pediatric genetics, Underrepresented populations, 030304 developmental biology, Genetic testing, Protocol (science), 0303 health sciences, Whole-genome sequencing, lcsh:R5-920, Modalities, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Clinical utility, Test (assessment), Family medicine, Personalized medicine, lcsh:Medicine (General), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c38919aa44264352c5ec73d52a8a27d5
https://doi.org/10.1101/2020.09.02.20186361

المؤلفون: Jennifer Yoffe, Lisa H. Shulman

المصدر: The Journal of Pediatrics. 239:73

مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Direct observation, Medicine, business, Value (mathematics), Developmental psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3475ce94f79f10ebbddc99521e9289ad
https://doi.org/10.1016/j.jpeds.2021.09.038

المؤلفون: Maria Valicenti-McDermott, Rosa Seijo, Lisa H. Shulman

المصدر: Pediatric neurology. 100

مصطلحات موضوعية: Male, Autism Spectrum Disorder, Vulnerability, Multilingualism, medicine.disease, Social relation, Developmental psychology, Social Skills, Nonverbal communication, Developmental Neuroscience, Neurology, Social skills, Autism spectrum disorder, Reciprocity (social psychology), Child, Preschool, Pediatrics, Perinatology and Child Health, medicine, Autism, Humans, Female, Neurology (clinical), Psychology, Neuroscience of multilingualism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d5f616c9e402e2245255c347443ec8
https://pubmed.ncbi.nlm.nih.gov/31416724